DNA-Based Testing for Adolescent Idiopathic Scoliosis (AIS)
Adolescent idiopathic scoliosis (AIS) is a disease of unknown etiology that causes mild-to-severe spinal deformity in 1% to 3% of adolescents. This disease occurs in otherwise healthy children with the onset of, and highly correlated with, the adolescent growth spurt. Diagnosis is established by radiologic observation in adolescents (age 10 years until the age of skeletal maturity) of a lateral spine curvature of 10 degrees or more as measured using the Cobb angle. The Cobb angle is defined as the angulation measured between the maximally tilted proximal and distal vertebrae of the curve. Curvature is considered mild (less than 25º), moderate (25º to 40º), or severe (more than 40º) in an individual still growing. Once diagnosed, individuals must be monitored over several years, usually with serial radiographs for curve progression. If the curve progresses, spinal bracing is the generally accepted first-line treatment. If the curve progresses in spite of bracing, spinal fusion may be recommended. Curve progression has been linked to a number of factors, including sex, curve magnitude, age and skeletal maturity. About one quarter of individuals affected with AIS report a positive family history of the disease and twin studies have consistently supported shared genetic factors. Classification tables for likelihood of progressive disease have been constructed to assist in the management of individuals with AIS.
The ScoliScore™ AIS prognostic DNA-based test uses an algorithm incorporating the results of testing 53 single-nucleotide polymorphism (SNP) markers with the individual’s presenting spinal curve (Cobb angle), to generate a risk score (range 1-200) to predict the likelihood of spinal curve progression. The test is intended for white (Caucasian) individuals with a primary diagnosis of AIS between the ages of 9 and 13 years-old with a mild scoliotic curve (defined as under 25º).
DNA-based prognostic testing for adolescent idiopathic scoliosis for is considered investigational.
Any specific products referenced in this policy are just examples and are intended for illustrative purposes only. It is not intended to be a recommendation of one product over another, and is not intended to represent a complete listing of all products available. These examples are contained in the parenthetical e.g. statement.
We develop Medical Policies to provide guidance to Members and Providers. This Medical Policy relates only to the services or supplies described in it. The existence of a Medical Policy is not an authorization, certification, explanation of benefits or a contract for the service (or supply) that is referenced in the Medical Policy. For a determination of the benefits that a Member is entitled to receive under his or her health plan, the Member's health plan must be reviewed. If there is a conflict between the Medical Policy and a health plan, the express terms of the health plan will govern.
Due to a lack of direct evidence demonstrating improved outcomes with the use of single-nucleotide polymorphisms (SNP)-based testing in individuals with AIS, this test is considered investigational. Further research is required to determine clinical validity and clinical utility.
BlueCross BlueShield Association. Medical Policy Reference Manual. (1:2017). DNA-based testing for adolescent idiopathic scoliosis (2.04.74). Retrieved January 3, 2018 from BlueWeb. (22 articles and/or guidelines reviewed)
Bohl, D.D., Telles, C.J., Ruiz, F.K., Badrinath, R., DeLuca, P.A., & Grauer, J.N. (2016). A genetic test predicts providence brace success for adolescent idiopathic scoliosis when failure is defined as progression to >45 degrees. Clinical Spine Surgery, 29 (3), E146-E150. Abstract retrieved February 14, 2017 from PubMed database.
Noshchenko, A., Hoffecker, L., Lindley, E., Burger, E., Cain, C., Patel, V., & Bradford, A. (2015). Predictors of spine deformity progression in adolescent idiopathic scoliosis: a systematic review with meta-analysis. World Journal of Orthopedics, 6 (7), 537-538. (Level 2 evidence)
Roye, B., Wright, M., Matsumoto, H., Yorgova, P., McCalla, D., Hyman, J., et al. (2015). An independent evaluation of the validity of a DNA-based prognostic test for adolescent idiopathic scoliosis. The Journal of Bone and Joint Surgery, 97 (24), 1994-1998. Abstract retrieved April 7, 2016 from PubMed database.
Roye, B., Wright, M., Williams, B., Matsumoto, H., Corona, J., Hyman, J., et al. (2012). Does ScoliScore provide more information than traditional clinical estimates of curve progression? Spine, 37 (25), 2099-2103. Abstract retrieved April 7, 2016 from PubMed database.
Ward, K, Ogilvie J, Singleton M et al. (2010). Validation of DNA-based prognostic testing to predict spinal curve progression in adolescent idiopathic scoliosis. Spine, 35 (25), E1455-E1464. (Level 4 evidence)
Winifred S. Hayes, Inc. Genetic Test Evaluation (GTE) Report. (2014, August). ScoliScore™ adolescent idiopathic scoliosis (AIS) prognostic test. Retrieved April 7, 2016 from www.Hayesinc.com/subscribers. (5 articles and/or guidelines reviewed)
Xu, L., Qin, X., Sun, W., Qiao, J., Qiu, Y., & Zhu, Z. (2016). Replication of association between 53 single-nucleotide polymorphisms in a DNA-based diagnostic test and AIS progression in Chinese Han population. Spine, 41 (4), 306-310. Abstract retrieved April 7, 2016 from PubMed database.
ORIGINAL EFFECTIVE DATE: 4/13/2012
MOST RECENT REVIEW DATE: 2/8/2018
Policies included in the Medical Policy Manual are not intended to certify coverage availability. They are medical determinations about a particular technology, service, drug, etc. While a policy or technology may be medically necessary, it could be excluded in a member's benefit plan. Please check with the appropriate claims department to determine if the service in question is a covered service under a particular benefit plan. Use of the Medical Policy Manual is not intended to replace independent medical judgment for treatment of individuals. The content on this Web site is not intended to be a substitute for professional medical advice in any way. Always seek the advice of your physician or other qualified health care provider if you have questions regarding a medical condition or treatment.
This document has been classified as public information.